Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.

Journal of neuromuscular diseases - 1 Jan 2000

Bhattacharya Sudha, Khadilkar Satish V, Nalini Atchayaram, Ganapathy Aparna, Mannan Ashraf U, Majumder Partha P, Bhattacharya Alok

Abstract excerpt

BACKGROUND: GNE myopathy is an adult onset recessive genetic disorder that affects distal muscles sparing the quadriceps. GNE gene mutations have been identified in GNE myopathy patients all over the world. Homozygosity is a common feature in GNE myopathy patients worldwide. OBJECTIVES: The major objective of this study was to investigate the mutation spectrum of GNE myopathy in India in relation to the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bangladesh
Share to Distal Myopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Multienzyme Complexes

Share to Muscular Diseases

Share to Pakistan

Share to Sri Lanka

Source

Identifiers

PMID: 29480215
DOI: 10.3233/JND-170270

Genes

GNE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.PMID 29480215Read ↗

GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.Semantic proximity Read ↗

GNE myopathy in India.Semantic proximity Read ↗

Novel missense variants associated with GNE myopathySemantic proximity Read ↗

GNE myopathy in Chinese population: hotspot and novel mutationsSemantic proximity Read ↗

Gene analysis and clinical features of 22 GNE myopathy patients.Semantic proximity Read ↗

Genetic and Clinical Spectrum of GNE Myopathy in RussiaSemantic proximity Read ↗

Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.Semantic proximity Read ↗

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.Semantic proximity Read ↗

GNE myopathy in a Chinese male with a novel homozygous mutation.Semantic proximity Read ↗

Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.Semantic proximity Read ↗

Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).Semantic proximity Read ↗

GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.